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MALATTIE CARDIOLOGICHE
Patologia (DPCM 2017 – Allegato 4)
Richiedi Esame
Geni analizzati
Numero di Geni
Codice Nomenclatore Tariffario Nazionale
Codice Patologia (DPCM 2017 – Allegato 4)
ACROMATOPSIA
ATF6, CNGA3, CNGB3, GNAT2, PDE6H, PDE6C
6
G1.07
P020
ALBINISMO OCULARE
GPR143
1
G1.01
P029
ALBINISMO OCULOCUTANEO
CACNA1F, TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, DCT
8
G1.04
P030
AMAUROSI CONGENITA DI LEBER
AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IFT140, IMPDH1, IQCB1, LCA5, LRAT, NMNAT1, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1
18
G1.19
P041
ANOMALIE VITREO (IN PARTICOLARE VITREOPATIE ESSUDATIVE)
FZD4, LRP5, NDP, TSPAN12, ZNF408
5
G1.05
P067
ATROFIA GIRATA DELLA COROIDE E DELLA RETINA
OAT
1
G1.01
P097
BARDET-BIEDL SYNDROME
ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CFAP418, CEP290, IFT172, IFT27, IFT74, LZTFL1, MKKS, MKS1, NPHP1, SDCCAG8, TRIM32, TTC21B, TTC8, WDPCP
24
G1.19
P109
CECITÀ CONGENITA NOTTURNA STAZIONARIA
CABP4, CACNA1F, GNAT1, GNB3, GPR179, GRK1, GRM6, LRIT3, NYX, PDE6B, RHO, SAG, SLC24A1, TRPM1
14
G1.13
P169
CHERATOCONO
VSX1, ZEB1
2
G1.02
P182
COLOBOMA CONGENITO DEL DISCO OTTICO 1 GENE
FZD5
1
G1.01
P199
COLOBOMA E ANOMALIE RENALI
PAX2
1
G1.01
P200
COROIDEREMIA
CHM
1
G1.01
P214
DEGENERAZIONE MACULARE SENILE
ABCA4
1
G1.01
P338
DISTROFIA CORNEO RETINICA DEL CRISTALLINO DI BIETTI
CYP4V2
1
G1.01
P396
DISTROFIA DEI CONI/BASTONCELLI
ABCA4, ADAM9, AIPL1, CFAP418, CFAP410, CACNA1F, CACNA2D4, CDHR1, CEP78, CNGA3, CRX, DRAM2, GUCA1A, GUCY2D, KCNV2, PDE6C, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RIMS1, RPGR, RPGRIP1, SEMA4A, TTLL5
27
G1.18
P398
DISTROFIA VITELLIFORME DELL’ADULTO/PATTERN DYSTROPHY
BEST1, CTNNA1, IMPG1, IMPG2, OTX2, PRPH2
6
G1.02
P413
DISTROFIE CORNEALI
AGBL1, CHST6, COL8A2, CRYAA, CRYBA4, CRYBB1, CRYBB2, CRYGC, CRYGD, CYP1B1, DCN, FOXE3, GSN, KRT12, KRT3, MAF, NHS, NLRP1, PAX6, PIKFYVE, PITX3, PRDM5, PXDN, SLC16A12, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1, ZEB1, ZNF469
32
G1.32
P414
DISTROFIE EREDITARIE DELLA COROIDE
GUCY2D, PRPH2
2
G1.02
P415
GLAUCOMA FAMILIARE
ASB10, CYP1B1, LTBP2, MYOC, NTF4, OPTN, SIX6, TEK, WDR36
9
G1.02
P476
MALATTIA DI NORRIE 1 GENE
NDP
1
G1.01
P647
MALATTIA DI REFSUM 2 GENI
PEX7, PHYH
2
G1.02
P654
RETINITI PIGMENTOSE AD
BEST1, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, OFD1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RGR, RHO, RLBP1, RP1, RP2, RP9, RPGR, SAG, SNRNP200, TOPORS
23
G1.15
P824
RETINITI PIGMENTOSE AR
ABCA4, AGBL5, ARL2BP, BEST1, PCARE, CERKL, CNGA1, CNGB1, CRB1, EYS, FAM161A, IMPG2, MAK, MERTK, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPH2, RHO, RP1, RPE65, RP1L1, SAG, TTC8, USH2A
27
G1.16
P825
RETINOSCHISI X-LINKED
RS1
1
G1.01
P828
SENIOR-LOKEN, SINDROME
CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP4, NPHP3, SDCCAG8, TRAF3IP1, WDR19
10
G1.02
P841
SINDROME DI STICKLER AR
COL9A1, COL9A2, COL9A3
3
G1.03
P198
SINDROME DI STICKLER, TIPO 1
COL2A1
1
G1.01
P197
SINDROME DI STICKLER, TIPO 2 E 3
COL11A1, COL11A2
2
G1.02
P196
STARGARDT, MALATTIA DI
ABCA4, CNGB3, ELOVL4, PRPH2, PROM1
5
G1.02
P967
USHER, SINDROME
ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN
10
G1.03
P991